PT  - JOURNAL ARTICLE
AU  - Katarzyna Gawarecka
AU  - Joanna Siwinska
AU  - Jaroslaw Poznanski
AU  - Agnieszka Onysk
AU  - Przemyslaw Surowiecki
AU  - Liliana Surmacz
AU  - Ji Hoon Ahn
AU  - Arthur Korte
AU  - Ewa Swiezewska
AU  - Anna Ihnatowicz
TI  - GWAS analysis combined with QTL mapping identify <em>CPT3</em> and <em>ABH</em> as genes underlying dolichol accumulation in Arabidopsis
AID  - 10.1101/2020.10.21.348912
DP  - 2020 Jan 01
TA  - bioRxiv
PG  - 2020.10.21.348912
4099  - http://biorxiv.org/content/early/2020/10/21/2020.10.21.348912.short
4100  - http://biorxiv.org/content/early/2020/10/21/2020.10.21.348912.full
AB  - Dolichols (Dols), ubiquitous components of living organisms, are indispensable for cell survival. In plants, as well as other eukaryotes, Dols are crucial for posttranslational protein glycosylation, aberration of which leads to fatal metabolic disorders in humans. Until now, the regulatory mechanisms underlying Dol accumulation remain elusive. In this report, we have analyzed the natural variation of the accumulation of Dols and six other isoprenoids between 120 Arabidopsis thaliana accessions. Subsequently, by combining QTL and GWAS approaches, we have identified several candidate genes involved in the accumulation of Dols, polyprenols, plastoquinone, and phytosterols. The role of two genes implicated in the accumulation of major Dols in Arabidopsis – the AT2G17570 gene encoding a long searched for cis-prenyltransferase (CPT3) and the AT1G52460 gene encoding an alpha-beta hydrolase (ABH) – is experimentally confirmed. These data will help to generate Dol-enriched plants which might serve as a remedy for Dol-deficiency in humans.